Results 51 to 60 of about 123,315 (302)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
core  

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers [PDF]

, 2012
<p>Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele.
Susan M Domchek, Frost, D., Beesley, Jonathan, Beesley, J., Jonathan Beesley, Couch, Fergus J, Samarajiwa, S., Caligo, Maria A., Ponder, Bruce A. J., Barkardottir, Rosa B., Ponder, Bruce AJ, Caligo, Maria, Adelaide, Sue Healey, Swe-brca, Swe-brca, Easton, Douglas F, Adlard, Julian, Barkardottir, Rosa B, Embrace, Embrace, Peock, Susan, Domchek, Susan, Gauthier-Villars, Marion, Heli Nevanlinna, Godwin, Andrew, null null, Xiaoqing Chen, Caligo, Maria,, Laurence Faivre, Sinilnikova, Olga M, Domchek, Susan M., Domchek, Susan M, Samarajiwa, Shamith, Georgia Chenevix-Trench, O'Reilly, M., Barkardottir, R.B., Mark Dunning, Evans, D,, Evans, D.G., Chen, Xiaoqing, Godwin, Andrew K, Couch, Fergus, Ponder, Bruce, Carlos Caldas, Debra Frost, Evans, D. G.; id_orcid, Curtis, Christina, Kartsonaki, C., Eccles, Diana, Nevanlinna, Heli, Einbeigi, Zakaria,, Nevanlinna, H., Izatt, Louise, Healey, S., Caldas, Carlos, McGuffog, Lesley, Evans, D, Gareth, Peock, S., Martin O'Reilly, Evans, D Gareth, Christiana Kartsonaki, Laurence Venat-Bouvet, Ponder, Bruce A.J., Diana Eccles, Adlard, J., Faivre, L., Mazoyer, Sylvie, Olga M Sinilnikova, Antoniou, A.C., Kartsonaki, Christiana, Venat-Bouvet, Laurence, Susan Peock, Louise Izatt, Rosa B Barkardottir, Easton, Douglas, Delnatte, C., McGuffog, L., Tobias, E.S., Julian Adlard, Chenevix-Trench, Georgia, Frost, Debra, Easton, Douglas F., Curtis, Christina N, Antoniou, Antonis, Suet-Feung Chin, Barkardottir, Rosa, Marion Gauthier-Villars, Venat-Bouvet, L., Godwin, A.K., Lesley McGuffog, Caligo, Maria-Adelaide, Couch, Fergus J., Antoniou, Antonis C, Christina N Curtis, Chin, Suet-Feung, Antoniou, Antonis C., Caligo, M.A., Gemo, Gemo, Couch, F.J., Sylvie Mazoyer, Sinilnikova, Olga, Andrew K Godwin, Stoppa-Lyonnet, D., Caligo, Maria Adelaide, Bruce AJ Ponder, Eeles, R., Chin, Suet Feung, Ponder, Bruce A J, D Gareth Evans, Eccles, D., Chen, X., Chin, S.F., O'Reilly, Martin, Capucine Delnatte, Ana-Teresa Maia, Easton, D.F., Delnatte, Capucine, Douglas F Easton, Dunning, M., Godwin, Andrew K., Maria Adelaide Caligo, Ros Eeles, Chenevix-Trench, G., Caldas, C., Domchek, S.M., Antonis C Antoniou, Curtis, C.N., Sinilnikova, O.M., Curtis, Christina N., Ponder, B.A.J., Sinilnikova, Olga M., Mazoyer, S., Eeles, Ros, Dunning, Mark, Dominique Stoppa-Lyonnet, Maia, A.T., Faivre, Laurence, Gauthier-Villars, M., Healey, Sue, kConFab, kConFab, Maia, Ana-Teresa, Stoppa-Lyonnet, Dominique, Shamith Samarajiwa, Fergus J Couch, Evans, D. Gareth, Izatt, L., Maia, Ana Teresa   +144 more
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source

Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers

Frontiers in Genetics, 2020
PALB2 is an important BRCAx candidate for familial breast cancers (FBC). PALB2 pathogenic variants (PVs) may not to conform to “two hit” paradigm. However, a recent study demonstrates that in the majority PALB2 germline mutant breast cancers, the loss of
Zhe-Yu Hu, Zhe-Yu Hu, Liping Liu, Liping Liu, Ning Xie, Ning Xie, Jun Lu, Jun Lu, Zhentian Liu, Yu Tang, Yu Tang, Yikai Wang, Jianbo Yang, Jianbo Yang, Jianbo Yang, Quchang Ouyang, Quchang Ouyang   +16 more
doaj   +1 more source

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis

BMC Research Notes, 2010
Background Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps and frequent extracolonic manifestations.
Mori Hiroki, Terai Tomohiro, Okamoto Kazuya, Takayanagi Yasuhiro, Osawa Satoshi, Maekawa Masato, Yamada Hidetaka, Shinmura Kazuya, Tao Hong, Nakamura Toshio, Sugimura Haruhiko   +10 more
doaj   +1 more source

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model

Molecular Oncology, EarlyView.
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute, Madeleine Birgersson, Paolo Ceriani, Margareta Wilhelm, Ourania N Kostopoulou   +4 more
wiley   +1 more source